WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.19359632_19359651del | CA2697552884 | PDHA1 | c.1173_1192del (p.Lys392ArgfsTer?) c.*844_*863del (n.*844_*863del) c.1236_1255del (p.Lys413ArgfsTer?) c.1266_1285del (p.Lys423ArgfsTer?) n.947_966del c.*484_*503del (n.*484_*503del) c.*607_*626del (n.*607_*626del) c.1152_1171del (p.Lys385ArgfsTer?) c.309_328del (p.Lys104ArgfsTer?) n.591_610del c.1059_1078del (p.Lys354ArgfsTer?) c.1287_1306del (p.Lys430ArgfsTer?) c.1194_1213del (p.Lys399ArgfsTer?) | ClinVar |
| X | g.19359637_19359653dup | CA873742943 | PDHA1 | c.1178_1194dup (n.1178_1194dup) c.*849_*865dup (n.*849_*865dup) c.1241_1257dup (n.1241_1257dup) c.1271_1287dup (n.1271_1287dup) n.952_968dup c.*489_*505dup (n.*489_*505dup) c.*612_*628dup (n.*612_*628dup) c.1157_1173dup (n.1157_1173dup) c.314_330dup (n.314_330dup) n.596_612dup c.1064_1080dup (n.1064_1080dup) c.1292_1308dup (n.1292_1308dup) c.1199_1215dup (n.1199_1215dup) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.19359642_19359654del | CA2499226556 | PDHA1 | c.1183_*1del (n.[c.1183_*1del;Ser395GlyfsTer?]) c.*854_*866del (n.*854_*866del) c.1246_*1del (n.[c.1246_*1del;Ser416GlyfsTer?]) c.1276_*1del (n.[c.1276_*1del;Ser426GlyfsTer?]) n.957_969del c.*494_*506del (n.*494_*506del) c.*617_*629del (n.*617_*629del) c.1162_*1del (n.[c.1162_*1del;Ser388GlyfsTer?]) c.319_*1del (n.[c.319_*1del;Ser107GlyfsTer?]) n.601_613del c.1069_*1del (n.[c.1069_*1del;Ser357GlyfsTer?]) c.1297_*1del (n.[c.1297_*1del;Ser433GlyfsTer?]) c.1204_*1del (n.[c.1204_*1del;Ser402GlyfsTer?]) | ClinVar dbSNP |
| X | g.19359637_19359681dup | CA2739268103 | PDHA1 | c.1178_*28dup (n.1178_*28dup) c.*849_*893dup (n.*849_*893dup) c.1241_*28dup (n.1241_*28dup) c.1271_*28dup (n.1271_*28dup) n.952_996dup c.*489_*533dup (n.*489_*533dup) c.*612_*656dup (n.*612_*656dup) c.1157_*28dup (n.1157_*28dup) c.314_*28dup (n.314_*28dup) n.596_640dup c.1064_*28dup (n.1064_*28dup) c.1292_*28dup (n.1292_*28dup) c.1199_*28dup (n.1199_*28dup) | ClinVar |
| X | g.19359640_19359658dup | CA2693251342 | PDHA1 | c.1181_*5dup (n.1181_*5dup) c.*852_*870dup (n.*852_*870dup) c.1244_*5dup (n.1244_*5dup) c.1274_*5dup (n.1274_*5dup) n.955_973dup c.*492_*510dup (n.*492_*510dup) c.*615_*633dup (n.*615_*633dup) c.1160_*5dup (n.1160_*5dup) c.317_*5dup (n.317_*5dup) n.599_617dup c.1067_*5dup (n.1067_*5dup) c.1295_*5dup (n.1295_*5dup) c.1202_*5dup (n.1202_*5dup) | gnomAD v4 |
| X | g.19359647_19359650del | CA121203 | PDHA1 | c.1188_1191del (p.Ser397LysfsTer?) c.*859_*862del (n.*859_*862del) c.1251_1254del (p.Ser418LysfsTer?) c.1281_1284del (p.Ser428LysfsTer?) n.962_965del c.*499_*502del (n.*499_*502del) c.*622_*625del (n.*622_*625del) c.1167_1170del (p.Ser390LysfsTer?) c.324_327del (p.Ser109LysfsTer?) n.606_609del c.1074_1077del (p.Ser359LysfsTer?) c.1302_1305del (p.Ser435LysfsTer?) c.1209_1212del (p.Ser404LysfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.19359643_19359652delinsCAGTCAGTTA | CA2418225624 | PDHA1 | c.1184_1193delinsCAGTCAGTTA (p.Ser395=) c.*855_*864delinsCAGTCAGTTA (n.*855_*864delinsCAGTCAGTTA) c.1247_1256delinsCAGTCAGTTA (p.Ser416=) c.1277_1286delinsCAGTCAGTTA (p.Ser426=) n.958_967delinsCAGTCAGTTA c.*495_*504delinsCAGTCAGTTA (n.*495_*504delinsCAGTCAGTTA) c.*618_*627delinsCAGTCAGTTA (n.*618_*627delinsCAGTCAGTTA) c.1163_1172delinsCAGTCAGTTA (p.Ser388=) c.320_329delinsCAGTCAGTTA (p.Ser107=) n.602_611delinsCAGTCAGTTA c.1070_1079delinsCAGTCAGTTA (p.Ser357=) c.1298_1307delinsCAGTCAGTTA (p.Ser433=) c.1205_1214delinsCAGTCAGTTA (p.Ser402=) | |
| X | g.19359646_19359654del | CA640857098 | PDHA1 | c.1187_*1del (n.[c.1187_*1del;Val396GlyfsTer21]) c.*858_*866del (n.*858_*866del) c.1250_*1del (n.[c.1250_*1del;Val417GlyfsTer21]) c.1280_*1del (n.[c.1280_*1del;Val427GlyfsTer21]) n.961_969del c.*498_*506del (n.*498_*506del) c.*621_*629del (n.*621_*629del) c.1166_*1del (n.[c.1166_*1del;Val389GlyfsTer21]) c.323_*1del (n.[c.323_*1del;Val108GlyfsTer21]) n.605_613del c.1073_*1del (n.[c.1073_*1del;Val358GlyfsTer21]) c.1301_*1del (n.[c.1301_*1del;Val434GlyfsTer21]) c.1208_*1del (n.[c.1208_*1del;Val403GlyfsTer21]) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.19359645_19359647dup | CA2579566473 | PDHA1 | c.1186_1188dup (p.Val396_Ser397insVal) c.*857_*859dup (n.*857_*859dup) c.1249_1251dup (p.Val417_Ser418insVal) c.1279_1281dup (p.Val427_Ser428insVal) n.960_962dup c.*497_*499dup (n.*497_*499dup) c.*620_*622dup (n.*620_*622dup) c.1165_1167dup (p.Val389_Ser390insVal) c.322_324dup (p.Val108_Ser109insVal) n.604_606dup c.1072_1074dup (p.Val358_Ser359insVal) c.1300_1302dup (p.Val434_Ser435insVal) c.1207_1209dup (p.Val403_Ser404insVal) | |
| X | g.19359647C>A | CA515486493 | PDHA1 | c.1188C>A (p.Val396=) c.*859C>A (n.*859C>A) c.1251C>A (p.Val417=) c.1281C>A (p.Val427=) n.962C>A c.*499C>A (n.*499C>A) c.*622C>A (n.*622C>A) c.1167C>A (p.Val389=) c.324C>A (p.Val108=) n.606C>A c.1074C>A (p.Val358=) c.1302C>A (p.Val434=) c.1209C>A (p.Val403=) | |
| X | g.19359647C>G | CA515486494 | PDHA1 | c.1188C>G (p.Val396=) c.*859C>G (n.*859C>G) c.1251C>G (p.Val417=) c.1281C>G (p.Val427=) n.962C>G c.*499C>G (n.*499C>G) c.*622C>G (n.*622C>G) c.1167C>G (p.Val389=) c.324C>G (p.Val108=) n.606C>G c.1074C>G (p.Val358=) c.1302C>G (p.Val434=) c.1209C>G (p.Val403=) | |
| X | g.19359647C>T | CA515486495 | PDHA1 | c.1188C>T (p.Val396=) c.*859C>T (n.*859C>T) c.1251C>T (p.Val417=) c.1281C>T (p.Val427=) n.962C>T c.*499C>T (n.*499C>T) c.*622C>T (n.*622C>T) c.1167C>T (p.Val389=) c.324C>T (p.Val108=) n.606C>T c.1074C>T (p.Val358=) c.1302C>T (p.Val434=) c.1209C>T (p.Val403=) | gnomAD v4 |
| X | g.19359648A>C | CA412397486 | PDHA1 | c.1189A>C (p.Ser397Arg) c.*860A>C (n.*860A>C) c.1252A>C (p.Ser418Arg) c.1282A>C (p.Ser428Arg) n.963A>C c.*500A>C (n.*500A>C) c.*623A>C (n.*623A>C) c.1168A>C (p.Ser390Arg) c.325A>C (p.Ser109Arg) n.607A>C c.1075A>C (p.Ser359Arg) c.1303A>C (p.Ser435Arg) c.1210A>C (p.Ser404Arg) | |
| X | g.19359648A>G | CA412397489 | PDHA1 | c.1189A>G (p.Ser397Gly) c.*860A>G (n.*860A>G) c.1252A>G (p.Ser418Gly) c.1282A>G (p.Ser428Gly) n.963A>G c.*500A>G (n.*500A>G) c.*623A>G (n.*623A>G) c.1168A>G (p.Ser390Gly) c.325A>G (p.Ser109Gly) n.607A>G c.1075A>G (p.Ser359Gly) c.1303A>G (p.Ser435Gly) c.1210A>G (p.Ser404Gly) | |
| X | g.19359648A>T | CA412397493 | PDHA1 | c.1189A>T (p.Ser397Cys) c.*860A>T (n.*860A>T) c.1252A>T (p.Ser418Cys) c.1282A>T (p.Ser428Cys) n.963A>T c.*500A>T (n.*500A>T) c.*623A>T (n.*623A>T) c.1168A>T (p.Ser390Cys) c.325A>T (p.Ser109Cys) n.607A>T c.1075A>T (p.Ser359Cys) c.1303A>T (p.Ser435Cys) c.1210A>T (p.Ser404Cys) | |
| X | g.19359649_19359652dup | CA2739268104 | PDHA1 | c.1190_1193dup (p.Ter398=) c.*861_*864dup (n.*861_*864dup) c.1253_1256dup (p.Ter419=) c.1283_1286dup (p.Ter429=) n.964_967dup c.*501_*504dup (n.*501_*504dup) c.*624_*627dup (n.*624_*627dup) c.1169_1172dup (p.Ter391=) c.326_329dup (p.Ter110=) n.608_611dup c.1076_1079dup (p.Ter360=) c.1304_1307dup (p.Ter436=) c.1211_1214dup (p.Ter405=) | ClinVar |
| X | g.19359649G>A | CA412397504 | PDHA1 | c.1190G>A (p.Ser397Asn) c.*861G>A (n.*861G>A) c.1253G>A (p.Ser418Asn) c.1283G>A (p.Ser428Asn) n.964G>A c.*501G>A (n.*501G>A) c.*624G>A (n.*624G>A) c.1169G>A (p.Ser390Asn) c.326G>A (p.Ser109Asn) n.608G>A c.1076G>A (p.Ser359Asn) c.1304G>A (p.Ser435Asn) c.1211G>A (p.Ser404Asn) | gnomAD v4 |
| X | g.19359649G>C | CA412397511 | PDHA1 | c.1190G>C (p.Ser397Thr) c.*861G>C (n.*861G>C) c.1253G>C (p.Ser418Thr) c.1283G>C (p.Ser428Thr) n.964G>C c.*501G>C (n.*501G>C) c.*624G>C (n.*624G>C) c.1169G>C (p.Ser390Thr) c.326G>C (p.Ser109Thr) n.608G>C c.1076G>C (p.Ser359Thr) c.1304G>C (p.Ser435Thr) c.1211G>C (p.Ser404Thr) | gnomAD v4 |
| X | g.19359649G>T | CA412397514 | PDHA1 | c.1190G>T (p.Ser397Ile) c.*861G>T (n.*861G>T) c.1253G>T (p.Ser418Ile) c.1283G>T (p.Ser428Ile) n.964G>T c.*501G>T (n.*501G>T) c.*624G>T (n.*624G>T) c.1169G>T (p.Ser390Ile) c.326G>T (p.Ser109Ile) n.608G>T c.1076G>T (p.Ser359Ile) c.1304G>T (p.Ser435Ile) c.1211G>T (p.Ser404Ile) | |
| X | g.19359650T>A | CA412397519 | PDHA1 | c.1191T>A (p.Ser397Arg) c.*862T>A (n.*862T>A) c.1254T>A (p.Ser418Arg) c.1284T>A (p.Ser428Arg) n.965T>A c.*502T>A (n.*502T>A) c.*625T>A (n.*625T>A) c.1170T>A (p.Ser390Arg) c.327T>A (p.Ser109Arg) n.609T>A c.1077T>A (p.Ser359Arg) c.1305T>A (p.Ser435Arg) c.1212T>A (p.Ser404Arg) | |
| X | g.19359650T>C | CA10363223 | PDHA1 | c.1191T>C (p.Ser397=) c.*862T>C (n.*862T>C) c.1254T>C (p.Ser418=) c.1284T>C (p.Ser428=) n.965T>C c.*502T>C (n.*502T>C) c.*625T>C (n.*625T>C) c.1170T>C (p.Ser390=) c.327T>C (p.Ser109=) n.609T>C c.1077T>C (p.Ser359=) c.1305T>C (p.Ser435=) c.1212T>C (p.Ser404=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.19359650T>G | CA412397523 | PDHA1 | c.1191T>G (p.Ser397Arg) c.*862T>G (n.*862T>G) c.1254T>G (p.Ser418Arg) c.1284T>G (p.Ser428Arg) n.965T>G c.*502T>G (n.*502T>G) c.*625T>G (n.*625T>G) c.1170T>G (p.Ser390Arg) c.327T>G (p.Ser109Arg) n.609T>G c.1077T>G (p.Ser359Arg) c.1305T>G (p.Ser435Arg) c.1212T>G (p.Ser404Arg) | |
| X | g.19359650T= | CA2418225627 | PDHA1 | c.1191T= (p.Ser397=) c.*862T= (n.*862T=) c.1254T= (p.Ser418=) c.1284T= (p.Ser428=) n.965T= c.*502T= (n.*502T=) c.*625T= (n.*625T=) c.1170T= (p.Ser390=) c.327T= (p.Ser109=) n.609T= c.1077T= (p.Ser359=) c.1305T= (p.Ser435=) c.1212T= (p.Ser404=) | |
| X | g.19359650_19359651dup | CA2695200156 | PDHA1 | c.1191_1192dup (p.Ter398PheextTer?) c.*862_*863dup (n.*862_*863dup) c.1254_1255dup (p.Ter419PheextTer?) c.1284_1285dup (p.Ter429PheextTer?) n.965_966dup c.*502_*503dup (n.*502_*503dup) c.*625_*626dup (n.*625_*626dup) c.1170_1171dup (p.Ter391PheextTer?) c.327_328dup (p.Ter110PheextTer?) n.609_610dup c.1077_1078dup (p.Ter360PheextTer?) c.1305_1306dup (p.Ter436PheextTer?) c.1212_1213dup (p.Ter405PheextTer?) | ClinVar |
| X | g.19359651T>A | CA412397527 | PDHA1 | c.1192T>A (p.Ter398Lys) c.*863T>A (n.*863T>A) c.1255T>A (p.Ter419Lys) c.1285T>A (p.Ter429Lys) n.966T>A c.*503T>A (n.*503T>A) c.*626T>A (n.*626T>A) c.1171T>A (p.Ter391Lys) c.328T>A (p.Ter110Lys) n.610T>A c.1078T>A (p.Ter360Lys) c.1306T>A (p.Ter436Lys) c.1213T>A (p.Ter405Lys) | |
| X | g.19359651T>C | CA412397524 | PDHA1 | c.1192T>C (p.Ter398Gln) c.*863T>C (n.*863T>C) c.1255T>C (p.Ter419Gln) c.1285T>C (p.Ter429Gln) n.966T>C c.*503T>C (n.*503T>C) c.*626T>C (n.*626T>C) c.1171T>C (p.Ter391Gln) c.328T>C (p.Ter110Gln) n.610T>C c.1078T>C (p.Ter360Gln) c.1306T>C (p.Ter436Gln) c.1213T>C (p.Ter405Gln) | |
| X | g.19359651T>G | CA412397525 | PDHA1 | c.1192T>G (p.Ter398Glu) c.*863T>G (n.*863T>G) c.1255T>G (p.Ter419Glu) c.1285T>G (p.Ter429Glu) n.966T>G c.*503T>G (n.*503T>G) c.*626T>G (n.*626T>G) c.1171T>G (p.Ter391Glu) c.328T>G (p.Ter110Glu) n.610T>G c.1078T>G (p.Ter360Glu) c.1306T>G (p.Ter436Glu) c.1213T>G (p.Ter405Glu) | |
| X | g.19359651_19359656delinsTAAGGG | CA2418225630 | PDHA1 | c.1192_*3delinsTAAGGG (n.[c.1192_*3delinsTAAGGG;Ter398=]) c.*863_*868delinsTAAGGG (n.*863_*868delinsTAAGGG) c.1255_*3delinsTAAGGG (n.[c.1255_*3delinsTAAGGG;Ter419=]) c.1285_*3delinsTAAGGG (n.[c.1285_*3delinsTAAGGG;Ter429=]) n.966_971delinsTAAGGG c.*503_*508delinsTAAGGG (n.*503_*508delinsTAAGGG) c.*626_*631delinsTAAGGG (n.*626_*631delinsTAAGGG) c.1171_*3delinsTAAGGG (n.[c.1171_*3delinsTAAGGG;Ter391=]) c.328_*3delinsTAAGGG (n.[c.328_*3delinsTAAGGG;Ter110=]) n.610_615delinsTAAGGG c.1078_*3delinsTAAGGG (n.[c.1078_*3delinsTAAGGG;Ter360=]) c.1306_*3delinsTAAGGG (n.[c.1306_*3delinsTAAGGG;Ter436=]) c.1213_*3delinsTAAGGG (n.[c.1213_*3delinsTAAGGG;Ter405=]) | |
| X | g.19359651_19359657delinsTAAGGGG | CA2418225628 | PDHA1 | c.1192_*4delinsTAAGGGG (n.[c.1192_*4delinsTAAGGGG;Ter398=]) c.*863_*869delinsTAAGGGG (n.*863_*869delinsTAAGGGG) c.1255_*4delinsTAAGGGG (n.[c.1255_*4delinsTAAGGGG;Ter419=]) c.1285_*4delinsTAAGGGG (n.[c.1285_*4delinsTAAGGGG;Ter429=]) n.966_972delinsTAAGGGG c.*503_*509delinsTAAGGGG (n.*503_*509delinsTAAGGGG) c.*626_*632delinsTAAGGGG (n.*626_*632delinsTAAGGGG) c.1171_*4delinsTAAGGGG (n.[c.1171_*4delinsTAAGGGG;Ter391=]) c.328_*4delinsTAAGGGG (n.[c.328_*4delinsTAAGGGG;Ter110=]) n.610_616delinsTAAGGGG c.1078_*4delinsTAAGGGG (n.[c.1078_*4delinsTAAGGGG;Ter360=]) c.1306_*4delinsTAAGGGG (n.[c.1306_*4delinsTAAGGGG;Ter436=]) c.1213_*4delinsTAAGGGG (n.[c.1213_*4delinsTAAGGGG;Ter405=]) | |
| X | g.19359651_19359662delinsTAAGGGGAGGAG | CA2418225629 | PDHA1 | c.1192_*9delinsTAAGGGGAGGAG (n.[c.1192_*9delinsTAAGGGGAGGAG;Ter398=]) c.*863_*874delinsTAAGGGGAGGAG (n.*863_*874delinsTAAGGGGAGGAG) c.1255_*9delinsTAAGGGGAGGAG (n.[c.1255_*9delinsTAAGGGGAGGAG;Ter419=]) c.1285_*9delinsTAAGGGGAGGAG (n.[c.1285_*9delinsTAAGGGGAGGAG;Ter429=]) n.966_977delinsTAAGGGGAGGAG c.*503_*514delinsTAAGGGGAGGAG (n.*503_*514delinsTAAGGGGAGGAG) c.*626_*637delinsTAAGGGGAGGAG (n.*626_*637delinsTAAGGGGAGGAG) c.1171_*9delinsTAAGGGGAGGAG (n.[c.1171_*9delinsTAAGGGGAGGAG;Ter391=]) c.328_*9delinsTAAGGGGAGGAG (n.[c.328_*9delinsTAAGGGGAGGAG;Ter110=]) n.610_621delinsTAAGGGGAGGAG c.1078_*9delinsTAAGGGGAGGAG (n.[c.1078_*9delinsTAAGGGGAGGAG;Ter360=]) c.1306_*9delinsTAAGGGGAGGAG (n.[c.1306_*9delinsTAAGGGGAGGAG;Ter436=]) c.1213_*9delinsTAAGGGGAGGAG (n.[c.1213_*9delinsTAAGGGGAGGAG;Ter405=]) | |
| X | g.19359652A= | CA2418225631 | PDHA1 | c.1193A= (p.Ter398=) c.*864A= (n.*864A=) c.1256A= (p.Ter419=) c.1286A= (p.Ter429=) n.967A= c.*504A= (n.*504A=) c.*627A= (n.*627A=) c.1172A= (p.Ter391=) c.329A= (p.Ter110=) n.611A= c.1079A= (p.Ter360=) c.1307A= (p.Ter436=) c.1214A= (p.Ter405=) | |
| X | g.19359652A>C | CA412397533 | PDHA1 | c.1193A>C (p.Ter398Ser) c.*864A>C (n.*864A>C) c.1256A>C (p.Ter419Ser) c.1286A>C (p.Ter429Ser) n.967A>C c.*504A>C (n.*504A>C) c.*627A>C (n.*627A>C) c.1172A>C (p.Ter391Ser) c.329A>C (p.Ter110Ser) n.611A>C c.1079A>C (p.Ter360Ser) c.1307A>C (p.Ter436Ser) c.1214A>C (p.Ter405Ser) | |
| X | g.19359652A>G | CA515486505 | PDHA1 | c.1193A>G (p.Ter398=) c.*864A>G (n.*864A>G) c.1256A>G (p.Ter419=) c.1286A>G (p.Ter429=) n.967A>G c.*504A>G (n.*504A>G) c.*627A>G (n.*627A>G) c.1172A>G (p.Ter391=) c.329A>G (p.Ter110=) n.611A>G c.1079A>G (p.Ter360=) c.1307A>G (p.Ter436=) c.1214A>G (p.Ter405=) | |
| X | g.19359652A>T | CA412397537 | PDHA1 | c.1193A>T (p.Ter398Leu) c.*864A>T (n.*864A>T) c.1256A>T (p.Ter419Leu) c.1286A>T (p.Ter429Leu) n.967A>T c.*504A>T (n.*504A>T) c.*627A>T (n.*627A>T) c.1172A>T (p.Ter391Leu) c.329A>T (p.Ter110Leu) n.611A>T c.1079A>T (p.Ter360Leu) c.1307A>T (p.Ter436Leu) c.1214A>T (p.Ter405Leu) | |
| X | g.19359652_19359656del | CA658799596 | PDHA1 | c.1193_*3del (n.[c.1193_*3del;Ter398=]) c.*864_*868del (n.*864_*868del) c.1256_*3del (n.[c.1256_*3del;Ter419=]) c.1286_*3del (n.[c.1286_*3del;Ter429=]) n.967_971del c.*504_*508del (n.*504_*508del) c.*627_*631del (n.*627_*631del) c.1172_*3del (n.[c.1172_*3del;Ter391=]) c.329_*3del (n.[c.329_*3del;Ter110=]) n.611_615del c.1079_*3del (n.[c.1079_*3del;Ter360=]) c.1307_*3del (n.[c.1307_*3del;Ter436=]) c.1214_*3del (n.[c.1214_*3del;Ter405=]) | ClinVar dbSNP |
| X | g.19359652_19359656dup | CA2693251343 | PDHA1 | c.1193_*3dup (n.1193_*3dup) c.*864_*868dup (n.*864_*868dup) c.1256_*3dup (n.1256_*3dup) c.1286_*3dup (n.1286_*3dup) n.967_971dup c.*504_*508dup (n.*504_*508dup) c.*627_*631dup (n.*627_*631dup) c.1172_*3dup (n.1172_*3dup) c.329_*3dup (n.329_*3dup) n.611_615dup c.1079_*3dup (n.1079_*3dup) c.1307_*3dup (n.1307_*3dup) c.1214_*3dup (n.1214_*3dup) | gnomAD v4 |
| X | g.19359653_19359658del | CA10363224 | PDHA1 | c.1194_*5del (n.[c.1194_*5del;Ter398=]) c.*865_*870del (n.*865_*870del) c.1257_*5del (n.[c.1257_*5del;Ter419=]) c.1287_*5del (n.[c.1287_*5del;Ter429=]) n.968_973del c.*505_*510del (n.*505_*510del) c.*628_*633del (n.*628_*633del) c.1173_*5del (n.[c.1173_*5del;Ter391=]) c.330_*5del (n.[c.330_*5del;Ter110=]) n.612_617del c.1080_*5del (n.[c.1080_*5del;Ter360=]) c.1308_*5del (n.[c.1308_*5del;Ter436=]) c.1215_*5del (n.[c.1215_*5del;Ter405=]) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.19359656_19359666del | CA10363225 | PDHA1 | c.*3_*13del (n.*3_*13del) c.*868_*878del (n.*868_*878del) n.971_981del c.*508_*518del (n.*508_*518del) c.*631_*641del (n.*631_*641del) n.615_625del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.19359653A>C | CA412397552 | PDHA1 | c.1194A>C (p.Ter398Tyr) c.*865A>C (n.*865A>C) c.1257A>C (p.Ter419Tyr) c.1287A>C (p.Ter429Tyr) n.968A>C c.*505A>C (n.*505A>C) c.*628A>C (n.*628A>C) c.1173A>C (p.Ter391Tyr) c.330A>C (p.Ter110Tyr) n.612A>C c.1080A>C (p.Ter360Tyr) c.1308A>C (p.Ter436Tyr) c.1215A>C (p.Ter405Tyr) | |
| X | g.19359653A>G | CA515486506 | PDHA1 | c.1194A>G (p.Ter398=) c.*865A>G (n.*865A>G) c.1257A>G (p.Ter419=) c.1287A>G (p.Ter429=) n.968A>G c.*505A>G (n.*505A>G) c.*628A>G (n.*628A>G) c.1173A>G (p.Ter391=) c.330A>G (p.Ter110=) n.612A>G c.1080A>G (p.Ter360=) c.1308A>G (p.Ter436=) c.1215A>G (p.Ter405=) | |
| X | g.19359653A>T | CA412397556 | PDHA1 | c.1194A>T (p.Ter398Tyr) c.*865A>T (n.*865A>T) c.1257A>T (p.Ter419Tyr) c.1287A>T (p.Ter429Tyr) n.968A>T c.*505A>T (n.*505A>T) c.*628A>T (n.*628A>T) c.1173A>T (p.Ter391Tyr) c.330A>T (p.Ter110Tyr) n.612A>T c.1080A>T (p.Ter360Tyr) c.1308A>T (p.Ter436Tyr) c.1215A>T (p.Ter405Tyr) | |
| X | g.19359653_19359683dup | CA640857099 | PDHA1 | c.1194_*30dup (n.1194_*30dup) c.*865_*895dup (n.*865_*895dup) c.1257_*30dup (n.1257_*30dup) c.1287_*30dup (n.1287_*30dup) n.968_998dup c.*505_*535dup (n.*505_*535dup) c.*628_*658dup (n.*628_*658dup) c.1173_*30dup (n.1173_*30dup) c.330_*30dup (n.330_*30dup) n.612_642dup c.1080_*30dup (n.1080_*30dup) c.1308_*30dup (n.1308_*30dup) c.1215_*30dup (n.1215_*30dup) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.19359654G>A | CA2418225632 | PDHA1 | c.*1G>A (n.*1G>A) c.*866G>A (n.*866G>A) n.969G>A c.*506G>A (n.*506G>A) c.*629G>A (n.*629G>A) n.613G>A | dbSNP |
| X | g.19359654G>C | CA1131434610 | PDHA1 | c.*1G>C (n.*1G>C) c.*866G>C (n.*866G>C) n.969G>C c.*506G>C (n.*506G>C) c.*629G>C (n.*629G>C) n.613G>C | dbSNP gnomAD v3 gnomAD v4 |
| X | g.19359654G= | CA2418225633 | PDHA1 | c.*1G= (n.*1G=) c.*866G= (n.*866G=) n.969G= c.*506G= (n.*506G=) c.*629G= (n.*629G=) n.613G= | |
| X | g.19359654G>T | CA2740044066 | PDHA1 | c.*1G>T (n.*1G>T) c.*866G>T (n.*866G>T) n.969G>T c.*506G>T (n.*506G>T) c.*629G>T (n.*629G>T) n.613G>T | |
| X | g.19359655G>A | CA2740044068 | PDHA1 | c.*2G>A (n.*2G>A) c.*867G>A (n.*867G>A) n.970G>A c.*507G>A (n.*507G>A) c.*630G>A (n.*630G>A) n.614G>A | |
| X | g.19359655G>C | CA2740044069 | PDHA1 | c.*2G>C (n.*2G>C) c.*867G>C (n.*867G>C) n.970G>C c.*507G>C (n.*507G>C) c.*630G>C (n.*630G>C) n.614G>C | |
| X | g.19359655G>T | CA2740044067 | PDHA1 | c.*2G>T (n.*2G>T) c.*867G>T (n.*867G>T) n.970G>T c.*507G>T (n.*507G>T) c.*630G>T (n.*630G>T) n.614G>T | |
| X | g.19359656G>A | CA10363226 | PDHA1 | c.*3G>A (n.*3G>A) c.*868G>A (n.*868G>A) n.971G>A c.*508G>A (n.*508G>A) c.*631G>A (n.*631G>A) n.615G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |